Corneal abnormalities
Gene: ABCA3Feedback from Manchester Centre for Genomic Medicine; not enough evidence to go in corneal abnormalities panel.Created: 3 Mar 2017, 10:14 a.m.
Comment on list classification: Discussed with Chris Campbell and the Manchester GDL group, and should be red until further evidence.Created: 22 Feb 2017, 10:22 a.m.
Comment on list classification: One publication reported identifying variants in this gene in 2 Chinese families and 5 sporadic patients. No in vitro or in vivo follow up of functional consquence of the missense variants reported. In silico predictions were reported and expression of ABCA3 was shown to be decreased in two patients with the disorder in family B compared to 3 unaffected individuals in the same family, but was not shown for all affected individuals compared to controls.Created: 15 Feb 2017, 5:41 p.m.
Recessive mutations associated with dysfunction of surfactant metabolismCreated: 7 Feb 2017, 5:35 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
AD Cataract-microcornea syndrome; AR mutations in dysfunction of surfactant metabolism
Publications
Variants in this GENE are reported as part of current diagnostic practice
09/03/2017 Revised and approved to Version 1.0 after expert and internal review.
This gene has been classified as Red List (Low Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Green List (High Evidence).
This gene has been classified as Red List (Low Evidence).
Phenotypes for ABCA3 were set to Cataract-microcornea syndrome
Phenotypes for ABCA3 were set to AD Cataract-microcornea syndrome
Phenotypes for ABCA3 were set to AD Cataract-microcornea syndrome; AR mutations in dysfunction of surfactant metabolism
Mode of inheritance for ABCA3 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Amber List (Moderate Evidence).
Publications for ABCA3 were set to 25406294
ABCA3 was created by ellenmcdonagh
ABCA3 was added to Corneal abnormalitiespanel. Sources: GDL Corneal Abnormalities panel